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@ARTICLE{RodriguezFos:284773,
      author       = {E. Rodriguez-Fos and M. Planas-Fèlix$^*$ and M. Burkert
                      and M. Puiggròs and J. Toedling and N. Thiessen and E.
                      Blanc and A. Szymansky and F. Hertwig and N. Ishaque and D.
                      Beule and D. Torrents and A. Eggert and R. P. Koche and R.
                      F. Schwarz and K. Haase$^*$ and J. H. Schulte and A. G.
                      Henssen$^*$},
      title        = {{M}utational topography reflects clinical neuroblastoma
                      heterogeneity},
      journal      = {Cell genomics},
      volume       = {3},
      number       = {10},
      issn         = {2666-979X},
      address      = {Amsterdam},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2023-02084},
      pages        = {100402},
      year         = {2023},
      abstract     = {Neuroblastoma is a pediatric solid tumor characterized by
                      strong clinical heterogeneity. Although
                      clinicalrisk-defining genomic alterations exist in
                      neuroblastomas, the mutational processes involved in their
                      generation remain largely unclear. By examining the
                      topography and mutational signatures derived from all
                      variantclasses, we identified co-occurring mutational
                      footprints, which we termed mutational scenarios. We
                      demonstrate that clinical neuroblastoma heterogeneity is
                      associated with differences in the mutational
                      processesdriving these scenarios, linking risk-defining
                      pathognomonic variants to distinct molecular
                      processes.Whereas high-risk MYCN-amplified neuroblastomas
                      were characterized by signs of replication slippageand
                      stress, homologous recombination-associated signatures
                      defined high-risk non-MYCN-amplified patients. Non-high-risk
                      neuroblastomas were marked by footprints of chromosome
                      mis-segregation andTOP1 mutational activity. Furthermore,
                      analysis of subclonal mutations uncovered differential
                      activity ofthese processes through neuroblastoma evolution.
                      Thus, clinical heterogeneity of neuroblastoma patientscan be
                      linked to differences in the mutational processes that are
                      active in their tumors.},
      cin          = {BE01},
      ddc          = {610},
      cid          = {I:(DE-He78)BE01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      doi          = {10.1016/j.xgen.2023.100402},
      url          = {https://inrepo02.dkfz.de/record/284773},
}